title: A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1.
abstract: Systemic pseudohypoaldosteronism type 1 (PHA1) is characterized by excessive salt loss from the renal tubulus, colon, sweat and salivary glands. Here we present a case of systemic PHA1 whose genetic analysis revealed a homozygous splicing mutation in intron 4 of SCNN1A (c.684+2 T>A) and discuss with the patient's phenotype. Previously described systemic PHA cases show varying degrees of severity dependent on the mutation. Most of the SCNN1A gene mutations present with a severe phenotype. The long-term follow-up and phenotype of the two reported cases with splicing mutation of the SCNN1A gene are unknown. Our case, with a new splicing mutation of SCNN1A, presented with a severe phenotype in the neonatal period. Since then she has been well without any hospitalization and respiratory illness. Her requirement for medication also decreased gradually. After early infancy she presented a mild systemic PHA1 phenotype up to the age of 39 months. In conclusion, the mutation in the patient is located at the splicing site and is definitely a new and pathogenic one, and the phenotype of the patient was milder as observed in a patient with missense mutation.
authors.forename: Zelal
authors.initials: Z
authors.lastname: Ekinci
authors.forename: Mehmet Baha
authors.initials: MB
authors.lastname: Aytac
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
mesh_terms: D053503:Epithelial Sodium Channels / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D011546:Pseudohypoaldosteronism / Q000235:genetics* / Q000503:physiopathology; D012326:RNA Splicing
chemical_list: D053503:Epithelial Sodium Channels; C507045:SCNN1A protein, human